ArticleFrontiers in neurology2023
Quantified fat fraction as biomarker assessing disease severity in rare Charcot-Marie-Tooth subtypes.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 5 citations in OpenAlex.
- A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A.iScience · 2026Article
- Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.Neurology · 2026Article
- Evaluation of normalized T1 signal intensity obtained using an automated segmentation model in lower leg MRI as a potential imaging biomarker in Charcot-Marie-Tooth disease type 1 A.Scientific reports · 2025Article
- Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.Annals of clinical and translational neurology · 2025Article
- Seizure freedom and therapy discontinuation in patients with idiopathic generalized epilepsy: retrospective cohort study from a tertiary epilepsy outpatient service.Journal of neurology · 2025Article
- Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.International journal of molecular sciences · 2024Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. Multi-echo Dixon MRI technique is a highly sensitive method for quantifying muscle fatty infiltration, which may provide excellent value for the assessment of CMT. Due to the rareness of the disease, its use in CMT disease has been rarely evaluated, especially in subtypes. Methods: Thirty-four CMT1 patients, 25 CMT2 patients, and 10 healthy controls were recruited. All of the recruited CMT1 patients are CMT1A with PMP22 duplication. Among CMT2 patients, 7 patients are CMT2A with MFN2 mutation, and 7 patients have SORD mutations. Multi-echo Dixon MRI imaging was performed. The fat fractions (FFs) of 5 muscle compartments of the leg were measured at proximal, middle, and distal levels by two specialized musculoskeletal radiologists. Comparisons between CMT1, CMT2, and genetically defined subtypes were conducted. Results: A proximal-distal gradient (27.6 ± 15.9, 29.9 ± 19.7, and 40.5 ± 21.4, Discussion: Multi-echo Dixon MRI imaging is a valuable tool for assessing disease severity in CMT. The difference in patterns of fatty infiltration of CMT subtypes is first reported, which could provide references when making targeted training plans.
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